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GABPA GA binding protein transcription factor subunit alpha [ Homo sapiens (human) ]

Gene ID: 2551, updated on 6-Jan-2019

Summary

Official Symbol
GABPAprovided by HGNC
Official Full Name
GA binding protein transcription factor subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:4071
See related
Ensembl:ENSG00000154727 MIM:600609
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NFT2; NRF2; NRF2A; E4TF1A; E4TF1-60; RCH04A07
Summary
This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]
Expression
Ubiquitous expression in thyroid (RPKM 13.9), endometrium (RPKM 11.3) and 25 other tissues See more
Orthologs

Genomic context

See GABPA in Genome Data Viewer
Location:
21q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (25734947..25772460)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (27107258..27144771)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene junctional adhesion molecule 2 Neighboring gene RNA guanylyltransferase and 5'-phosphatase pseudogene 1 Neighboring gene ferredoxin 1 pseudogene 2 Neighboring gene ATP synthase peripheral stalk subunit F6 Neighboring gene LLP homolog, long-term synaptic facilitation pseudogene 2 Neighboring gene uncharacterized LOC105372757 Neighboring gene uncharacterized LOC105372756

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Epigallocatechin-3-gallate (EGCG)-mediated inhibition of HIV-1 Tat-induced LTR transactivation involves activation of Nrf2 and AMPK signaling pathways and inhibition of AKT signaling pathway in MAGI cells PubMed
tat Overexpression of Nrf2 or Keap1 knockdown by siRNA inhibits Tat-induced HIV-1 LTR transactivation in MAGI cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Allograft Rejection, organism-specific biosystem (from WikiPathways)
    Allograft Rejection, organism-specific biosystemThis pathway illustrates molecular interactions involved in the fundamental adaptive immune response for allograft destruction. This pathway was adapted in large part from the KEGG pathway http://www...
  • Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystem (from WikiPathways)
    Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystemGABP alpha/beta complex mediates the maintenance of hematopoietic stem cells (HSCs) through control of proteins necessary for epigenetic modification and transcription regulation. The activation of k...
  • Mitochondrial Gene Expression, organism-specific biosystem (from WikiPathways)
    Mitochondrial Gene Expression, organism-specific biosystemNumerous nuclear-encoded genes co-ordinate the expression of genes encoded on the mitochondrial genome.
  • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
  • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
    Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
blastocyst formation IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to dopamine IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion organization TAS
Traceable Author Statement
more info
 
negative regulation of megakaryocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
GA-binding protein alpha chain
Names
GA binding protein transcription factor alpha subunit 60kDa
GABP subunit alpha
human nuclear respiratory factor-2 subunit alpha
nuclear respiratory factor 2 alpha subunit
nuclear respiratory factor 2 subunit alpha
transcription factor E4TF1-60

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001197297.1NP_001184226.1  GA-binding protein alpha chain

    See identical proteins and their annotated locations for NP_001184226.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AP000226, BU683067, BX647755
    Consensus CDS
    CCDS13575.1
    UniProtKB/Swiss-Prot
    Q06546
    UniProtKB/TrEMBL
    A8IE48
    Related
    ENSP00000346886.3, ENST00000354828.7
    Conserved Domains (3) summary
    cd08534
    Location:168254
    SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
    smart00413
    Location:319403
    ETS; erythroblast transformation specific domain
    pfam11620
    Location:40119
    GABP-alpha; GA-binding protein alpha chain
  2. NM_002040.3NP_002031.2  GA-binding protein alpha chain

    See identical proteins and their annotated locations for NP_002031.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AI917898, BC035031, BG542623, BX117934, BX647755, CB132898, CD674081, CV575645
    Consensus CDS
    CCDS13575.1
    UniProtKB/Swiss-Prot
    Q06546
    UniProtKB/TrEMBL
    A8IE48, Q8IYS3
    Related
    ENSP00000382948.3, ENST00000400075.3
    Conserved Domains (3) summary
    cd08534
    Location:168254
    SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
    smart00413
    Location:319403
    ETS; erythroblast transformation specific domain
    pfam11620
    Location:40119
    GABP-alpha; GA-binding protein alpha chain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    25734947..25772460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529521.3XP_011527823.1  GA-binding protein alpha chain isoform X1

    See identical proteins and their annotated locations for XP_011527823.1

    UniProtKB/Swiss-Prot
    Q06546
    UniProtKB/TrEMBL
    A8IE48
    Conserved Domains (3) summary
    cd08534
    Location:168254
    SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
    smart00413
    Location:319403
    ETS; erythroblast transformation specific domain
    pfam11620
    Location:40119
    GABP-alpha; GA-binding protein alpha chain
  2. XM_011529520.3XP_011527822.1  GA-binding protein alpha chain isoform X1

    See identical proteins and their annotated locations for XP_011527822.1

    UniProtKB/Swiss-Prot
    Q06546
    UniProtKB/TrEMBL
    A8IE48
    Conserved Domains (3) summary
    cd08534
    Location:168254
    SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
    smart00413
    Location:319403
    ETS; erythroblast transformation specific domain
    pfam11620
    Location:40119
    GABP-alpha; GA-binding protein alpha chain
  3. XM_005260938.5XP_005260995.1  GA-binding protein alpha chain isoform X1

    See identical proteins and their annotated locations for XP_005260995.1

    UniProtKB/Swiss-Prot
    Q06546
    UniProtKB/TrEMBL
    A8IE48
    Conserved Domains (3) summary
    cd08534
    Location:168254
    SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
    smart00413
    Location:319403
    ETS; erythroblast transformation specific domain
    pfam11620
    Location:40119
    GABP-alpha; GA-binding protein alpha chain
  4. XM_024452062.1XP_024307830.1  GA-binding protein alpha chain isoform X1

    Conserved Domains (3) summary
    cd08534
    Location:168254
    SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
    smart00413
    Location:319403
    ETS; erythroblast transformation specific domain
    pfam11620
    Location:40119
    GABP-alpha; GA-binding protein alpha chain
  5. XM_017028313.2XP_016883802.1  GA-binding protein alpha chain isoform X1

    UniProtKB/Swiss-Prot
    Q06546
    UniProtKB/TrEMBL
    A8IE48
    Conserved Domains (3) summary
    cd08534
    Location:168254
    SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
    smart00413
    Location:319403
    ETS; erythroblast transformation specific domain
    pfam11620
    Location:40119
    GABP-alpha; GA-binding protein alpha chain
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